Table 1 Top 12 recessive disorders with the highest carrier rate (at prevalence over 1 in 100) of AR and X-liked disorder in the study population.

From: Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening

Gene

AR chronic conditions

Number of cases identified

Carrier frequency

(%)

Carrier frequency (1 in)

GJB2

GJB2-related hearing impairment

67

19.8

1 in 5

HBB

Beta-thalassemia

21

6.2

1 in 16

CFTR

Cystic fibrosis

15

4.4

1 in 23

G6PD

G6PD deficiency

12

3.6

1 in 28

ATP7B

Wilson disease

11

3.3

1 in 31

USHA

Usher syndrome

11

3.3

1 in 31

GAA

Glycogen storage disease

6

1.8

1 in 56

AGXT

Hyperoxaluria

5

1.5

1 in 68

GALC

Glucose metabolic disorder

5

1.5

1 in 68

GRHPR

Hyperoxaluria primary, type II

4

1.2

1 in 85

RDH12

Leber congenital amaurosis 13

4

1.2

1 in 85

RPGRIP1L

Meckel syndrome, type 5

4

1.2

1 in 85

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